Article
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.
Human mutation - 1 Jan 1998
Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K
Abstract excerpt
No abstract is available from the source.
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA Mutational Analysis
- Family Health
- Fatal Outcome
- Female
- Hereditary Sensory and Motor Neuropathy
- Humans
- Infant
- Male
- Mutagenesis, Insertional
- Mutation
- Myelin P0 Protein
- Pedigree
- Phenylalanine
- Polymerase Chain Reaction